Mutagenetix > Incidental Mutation

Incidental Mutation 'R4613:Fgf20'

350974

Institutional Source

Beutler Lab

Gene Symbol

Fgf20

Ensembl Gene

ENSMUSG00000031603

Gene Name

fibroblast growth factor 20

Synonyms

MMRRC Submission

041824-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4613 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

40279166-40308331 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 40286611 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glycine at position 33 (R33G)

Ref Sequence

ENSEMBL: ENSMUSP00000034014 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034014] [ENSMUST00000118639]

AlphaFold

Q9ESL9

Predicted Effect

probably benign
Transcript: ENSMUST00000034014
AA Change: R33G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000034014
Gene: ENSMUSG00000031603
AA Change: R33G

Domain	Start	End	E-Value	Type
low complexity region	35	53	N/A	INTRINSIC
FGF	63	194	3.3e-78	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000118639

SMART Domains

Protein: ENSMUSP00000112756
Gene: ENSMUSG00000031603

Domain	Start	End	E-Value	Type
FGF	6	140	2.08e-47	SMART

Coding Region Coverage

1x: 99.4%
3x: 98.7%
10x: 97.4%
20x: 95.5%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the fibroblast growth factor family. The fibroblast growth factors possess broad mitogenic and cell survival activities, and are involved in a variety of biological processes including embryonic development, cell growth, morphogenesis, tissue repair, tumor growth and invasion. This gene product is a secreted neurotrophic factor but lacks a typical signal peptide. It is expressed in normal brain, particularly the cerebellum, and may regulate central nervous system development and function. Homodimerization of this protein was shown to regulate its receptor binding activity and concentration gradient in the extracellular matrix. Genetic variations of this gene have been associated with Parkinson disease susceptibility. [provided by RefSeq, Oct 2009]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit imapired coclear lateral compartment differentiation and deafness without loss of vestibular function. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9830107B12Rik	A	T	17: 48,128,557 (GRCm38)	L130I	probably benign	Het
Abca9	A	G	11: 110,144,784 (GRCm38)	V670A	probably benign	Het
Adad1	A	G	3: 37,092,033 (GRCm38)	N517D	probably damaging	Het
Ankle2	T	C	5: 110,231,379 (GRCm38)	L48P	probably benign	Het
Aoc3	A	T	11: 101,337,659 (GRCm38)		probably benign	Het
Areg	A	G	5: 91,143,504 (GRCm38)	K102R	probably benign	Het
Bmp1	T	C	14: 70,508,523 (GRCm38)	T167A	probably damaging	Het
C4b	C	T	17: 34,734,551 (GRCm38)	G986D	probably benign	Het
Caml	G	T	13: 55,625,142 (GRCm38)	G200C	probably damaging	Het
Ccdc40	A	C	11: 119,231,532 (GRCm38)	R53S	probably benign	Het
Cdh22	T	A	2: 165,143,656 (GRCm38)	I337L	probably benign	Het
Col12a1	A	T	9: 79,647,601 (GRCm38)	V2065D	probably benign	Het
Copg2	A	G	6: 30,811,596 (GRCm38)	S591P	probably benign	Het
Cyp2d34	G	A	15: 82,616,325 (GRCm38)	P438S	probably damaging	Het
Dchs1	T	C	7: 105,772,724 (GRCm38)	D163G	probably damaging	Het
Depdc1b	T	C	13: 108,363,643 (GRCm38)	V230A	probably damaging	Het
Depdc5	T	A	5: 32,975,446 (GRCm38)	L1300H	probably damaging	Het
Dnah10	G	T	5: 124,762,869 (GRCm38)		probably null	Het
Dsc2	A	T	18: 20,041,819 (GRCm38)	D466E	probably damaging	Het
Dthd1	A	G	5: 62,827,068 (GRCm38)	D372G	probably damaging	Het
Eogt	G	T	6: 97,134,304 (GRCm38)	Q199K	probably benign	Het
Epha6	C	A	16: 59,666,597 (GRCm38)	R1029L	possibly damaging	Het
Eppin	C	A	2: 164,589,323 (GRCm38)	E128*	probably null	Het
Fam102b	A	T	3: 109,027,255 (GRCm38)	F23I	probably benign	Het
Fam160b1	C	A	19: 57,371,187 (GRCm38)	P53Q	probably damaging	Het
Fgg	A	G	3: 83,010,090 (GRCm38)	N142S	probably damaging	Het
Gba	C	T	3: 89,208,644 (GRCm38)		probably null	Het
Gli2	A	G	1: 118,837,511 (GRCm38)	V970A	probably damaging	Het
Gramd1b	A	T	9: 40,307,993 (GRCm38)	V508D	probably damaging	Het
Gucy2c	T	A	6: 136,708,321 (GRCm38)	D898V	probably damaging	Het
Kcnj15	T	C	16: 95,295,794 (GRCm38)	Y92H	probably damaging	Het
L3mbtl3	A	T	10: 26,282,795 (GRCm38)	S652T	unknown	Het
Ldb2	G	T	5: 44,476,551 (GRCm38)	Q326K	probably benign	Het
Lipi	C	A	16: 75,560,801 (GRCm38)	R292L	probably benign	Het
Lrrc36	G	A	8: 105,449,614 (GRCm38)	V207I	possibly damaging	Het
Lyplal1	C	T	1: 186,088,752 (GRCm38)	G166D	probably benign	Het
Map1b	A	T	13: 99,430,302 (GRCm38)	Y1970*	probably null	Het
Map2	A	G	1: 66,425,469 (GRCm38)	N287D	probably damaging	Het
Map3k11	A	T	19: 5,697,470 (GRCm38)	Q578L	probably benign	Het
Map3k11	G	T	19: 5,697,471 (GRCm38)	Q578H	probably damaging	Het
Map4k4	G	A	1: 40,017,191 (GRCm38)	S1012N	probably benign	Het
Mapk13	A	T	17: 28,769,452 (GRCm38)	N15Y	probably damaging	Het
Mapk15	G	A	15: 75,995,910 (GRCm38)	A125T	probably damaging	Het
Mrgprb1	C	A	7: 48,447,708 (GRCm38)	R152L	possibly damaging	Het
Muc5ac	T	G	7: 141,791,103 (GRCm38)	Y104D	possibly damaging	Het
Myo1h	A	G	5: 114,348,379 (GRCm38)	N566S	possibly damaging	Het
Myo1h	C	A	5: 114,351,676 (GRCm38)	H647Q	probably benign	Het
Neo1	A	G	9: 58,889,041 (GRCm38)	I1201T	possibly damaging	Het
Nlgn1	T	C	3: 25,436,022 (GRCm38)	T514A	probably benign	Het
Olfr120	A	G	17: 37,726,696 (GRCm38)	Y224C	probably damaging	Het
Olfr533	A	T	7: 140,467,068 (GRCm38)	Y289F	probably damaging	Het
Olfr8	A	G	10: 78,956,065 (GRCm38)	N287D	probably damaging	Het
Olfr985	T	A	9: 40,127,722 (GRCm38)	K80*	probably null	Het
Orc2	A	T	1: 58,500,309 (GRCm38)	L57*	probably null	Het
Otoa	G	A	7: 121,145,568 (GRCm38)	V850M	probably damaging	Het
Pcnx3	T	C	19: 5,667,219 (GRCm38)	T1579A	possibly damaging	Het
Pde5a	A	T	3: 122,823,093 (GRCm38)	Y564F	probably damaging	Het
Pdxk	A	C	10: 78,447,919 (GRCm38)	I147S	probably damaging	Het
Pfdn5	A	G	15: 102,328,752 (GRCm38)	D108G	probably benign	Het
Pink1	T	C	4: 138,317,310 (GRCm38)	D342G	probably damaging	Het
Prkacb	A	T	3: 146,737,998 (GRCm38)	V336E	probably damaging	Het
Ptpro	C	A	6: 137,416,836 (GRCm38)	S13*	probably null	Het
Rfng	A	G	11: 120,782,650 (GRCm38)	L215P	probably damaging	Het
Rpn2	T	C	2: 157,302,425 (GRCm38)	F336L	possibly damaging	Het
Sacs	A	G	14: 61,211,797 (GRCm38)		probably null	Het
Sirpb1a	T	A	3: 15,417,037 (GRCm38)	Y77F	probably benign	Het
Skiv2l2	C	A	13: 112,921,739 (GRCm38)	E53*	probably null	Het
Slc30a8	A	G	15: 52,333,575 (GRCm38)	D294G	probably benign	Het
Sox13	T	C	1: 133,388,934 (GRCm38)	I212V	probably benign	Het
Srebf2	T	A	15: 82,185,348 (GRCm38)	I657N	possibly damaging	Het
Srsf6	C	A	2: 162,933,709 (GRCm38)	T146K	probably benign	Het
Strn4	T	C	7: 16,824,163 (GRCm38)	V162A	possibly damaging	Het
Sulf2	T	C	2: 166,132,605 (GRCm38)	D53G	probably damaging	Het
Tbc1d8	T	A	1: 39,372,708 (GRCm38)	I1016F	probably damaging	Het
Tfrc	G	T	16: 32,618,657 (GRCm38)	A278S	probably damaging	Het
Tnrc6a	T	G	7: 123,184,289 (GRCm38)		probably null	Het
Vmn1r83	T	C	7: 12,321,768 (GRCm38)	I121V	probably benign	Het
Vps13d	T	C	4: 145,131,655 (GRCm38)	S2200G	possibly damaging	Het
Washc2	T	A	6: 116,229,269 (GRCm38)	D397E	probably damaging	Het
Wipf3	T	C	6: 54,485,555 (GRCm38)	L250P	probably damaging	Het
Xirp1	A	G	9: 120,019,682 (GRCm38)	F45S	probably damaging	Het
Xpo5	A	G	17: 46,236,963 (GRCm38)	T910A	probably benign	Het
Zfp235	T	C	7: 24,141,676 (GRCm38)	Y507H	probably damaging	Het

Other mutations in Fgf20

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02730:Fgf20	APN	8	40,279,787 (GRCm38)	missense	probably damaging	0.99
IGL03365:Fgf20	APN	8	40,279,891 (GRCm38)	missense	possibly damaging	0.95
mermaid	UTSW	8	40,281,148 (GRCm38)	missense	probably damaging	0.98
LCD18:Fgf20	UTSW	8	40,292,318 (GRCm38)	intron	probably benign
R1893:Fgf20	UTSW	8	40,279,803 (GRCm38)	missense	possibly damaging	0.49
R4067:Fgf20	UTSW	8	40,279,855 (GRCm38)	missense	probably benign	0.00
R6166:Fgf20	UTSW	8	40,279,840 (GRCm38)	missense	probably damaging	0.98
R6280:Fgf20	UTSW	8	40,281,112 (GRCm38)	nonsense	probably null
R6869:Fgf20	UTSW	8	40,281,148 (GRCm38)	missense	probably damaging	0.98
R7561:Fgf20	UTSW	8	40,279,934 (GRCm38)	missense	possibly damaging	0.92
R7739:Fgf20	UTSW	8	40,279,896 (GRCm38)	missense	probably damaging	1.00
R8191:Fgf20	UTSW	8	40,308,320 (GRCm38)	start gained	probably benign
R9144:Fgf20	UTSW	8	40,279,917 (GRCm38)	missense
R9261:Fgf20	UTSW	8	40,286,910 (GRCm38)	intron	probably benign

Predicted Primers

PCR Primer
(F):5'- TACCGAAGAGACTGTGATCCTG -3'
(R):5'- ACAGGGACCTCACAGGAGTAAC -3'

Sequencing Primer
(F):5'- AGACTGTGATCCTGCCGGG -3'
(R):5'- GGCTATAATTTTTCTGCATTCGC -3'

Posted On

2015-10-08